This website provides information on patients with variants in the CAMLG gene, including clinical data, molecular data, management and research options.
Pathogenic variants in the CAMLG gene (CAMLG-CDG) have so far been identified in only one patient. This individual displays a predominantly neurological phenotype with severe developmental delay, axial hypotonia and peripheral hypertonia, epilepsy and structural brain abnormalities.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the CAMLG gene.
Matthew Wilson, PhD, KU Leuven, Leuven, Belgium, firstname.lastname@example.org
Daisy Rymen, MD, PhD, UZ Leuven, Leuven, Belgium, email@example.com